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Trait

Cerebellar calcifications

HPO HP:0007352

Summary

Body system
Abnormality of the musculoskeletal systemAbnormality of the nervous system

12 genes linked to Cerebellar calcifications

Changes in these genes cause rare conditions in which Cerebellar calcifications is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
CMPK2cytidine/uridine monophosphate kinase 2AlwaysIn 2 conditions
RBBP8RB binding protein 8, endonucleaseAlwaysIn 1 condition
RRP12ribosomal RNA processing 12 homologAlwaysIn 2 conditions
TREX1three prime repair exonuclease 1AlwaysIn 1 condition
JAM2junctional adhesion molecule 2Very often (80–99%)In 2 conditions
NAA60N-alpha-acetyltransferase 60, NatF catalytic subunitOften (30–79%)In 2 conditions
PDGFBplatelet derived growth factor subunit BOften (30–79%)In 2 conditions
MYORGmyogenesis regulating glycosidaseSometimes (5–29%)In 1 condition
PDGFRBplatelet derived growth factor receptor betaSometimes (5–29%)In 1 condition
SLC20A2solute carrier family 20 member 2Sometimes (5–29%)In 1 condition
XPR1xenotropic and polytropic retrovirus receptor 1Sometimes (5–29%)In 1 condition
ERCC6ERCC excision repair 6, chromatin remodeling factorNot recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Narrower traits

Broader traits

Abnormality of the cerebellumEctopic calcification

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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